20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
4 citations
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December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
February 2024 in “Journal of Paediatrics and Child Health” Hormonal changes and social stress may link lupus and eating disorders in teens.
November 2017 in “Arthritis Care & Research” 3 citations
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December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
April 2018 in “Blackwell's Five‐Minute Veterinary Consult Clinical Companion” The document provides a guideline to help identify skin conditions in small animals based on lesion characteristics.
January 2009 in “Chinese Journal of Evidence-Based Pediatrics” Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
29 citations
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June 2014 in “Experimental Cell Research” EGF–FGF2 helps mouse stem cells grow and become more like nerve cells.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
May 2026 in “International Journal of Drug Delivery Technology” Accurate diagnosis of EFFC is crucial for effective counseling and cosmetic care.
October 2024 in “Hippocrates Medical Journal” Eating disorders often cause skin issues, which can help in early diagnosis and treatment.
1 citations
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June 2025 in “Journal of Veterinary Internal Medicine” The donkey had a severe disease affecting multiple organs and was euthanized.
Light tickling can be unpleasant and may feel worse for individuals with autism.
3 citations
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August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
8 citations
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December 2015 in “JAMA ophthalmology” A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
5 citations
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April 2016 in “PubMed” Cetuximab often causes skin problems, but they can be managed without stopping treatment.
November 2025 in “Frontiers in Endocrinology” A rare tumor caused unusual hormone production leading to Cushing syndrome.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
September 2023 in “Journal of the American Academy of Dermatology” A rare benign scalp tumor in an infant requires surgical removal.
16 citations
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November 2008 in “Journal of the American Academy of Dermatology” Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
3 citations
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November 2018 in “PubMed” People with TED often have low B12 levels and might benefit from B12 supplements.
3 citations
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January 2021 in “International journal of general medicine” An 8-year-old boy with a scabies infection was successfully treated with permethrin, antihistamines, and antibiotics.
160 citations
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January 2014 in “Seminars in cell & developmental biology” Early development of hair, teeth, and glands involves specific signaling pathways and cellular interactions.